Literature DB >> 27130505

Metabolic Liver Disease: When to Suspect and How to Diagnose?

Seema Alam1, Vikrant Sood2.   

Abstract

Metabolic liver diseases are still considered by many as a 'rare' diagnosis, though scenario has definitely changed in recent times. With recent advances and wider availablility of newer techniques, many of these are now amenable to diagnosis and optimum management. Though the logistics involved are still out of reach of a significant proportion of our population, a stepwise and methodological approach with simple diagnostic tests can help point towards a probable diagnosis (with resultant directed investigations), helping to avoid unnecessary and costly workup. This review focuses on diagnostic protocol-based approach to common metabolic liver diseases encountered frequently in pediatric hepatology.

Entities:  

Keywords:  Gene therapy; Genetic counseling; Hepatocyte transplantation; Inborn errors of metabolism; Liver transplantation; Metabolic liver diseases; Protocol based approach; Red flag signs

Mesh:

Year:  2016        PMID: 27130505     DOI: 10.1007/s12098-016-2097-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  44 in total

1.  Glycogen storage disease: report of 17 cases from southern India.

Authors:  Abraham Koshy; Kannan Ramaswamy; Marjorie Correa; Swarna Rekha
Journal:  Indian J Gastroenterol       Date:  2006 Jul-Aug

2.  Successful liver transplantation and long-term follow-up in a patient with MPI-CDG.

Authors:  Mirian C H Janssen; Ruben H de Kleine; Arie P van den Berg; Yvonne Heijdra; Monique van Scherpenzeel; Dirk J Lefeber; Eva Morava
Journal:  Pediatrics       Date:  2014-07       Impact factor: 7.124

3.  Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores.

Authors:  Jeremy Rajanayagam; David Coman; David Cartwright; Peter J Lewindon
Journal:  Pediatr Transplant       Date:  2013-04-16

4.  Liver failure associated with mitochondrial DNA depletion.

Authors:  A A Morris; J W Taanman; J Blake; J M Cooper; B D Lake; M Malone; S Love; P T Clayton; J V Leonard; A H Schapira
Journal:  J Hepatol       Date:  1998-04       Impact factor: 25.083

Review 5.  Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.

Authors:  Anthony F Porto
Journal:  Pediatr Endocrinol Rev       Date:  2014-09

Review 6.  Concise review: cell therapies for hereditary metabolic liver diseases-concepts, clinical results, and future developments.

Authors:  Tobias Cantz; Amar Deep Sharma; Michael Ott
Journal:  Stem Cells       Date:  2015-04       Impact factor: 6.277

7.  Acute Liver Failure in Infants and Young Children in a Specialized Pediatric Liver Centre in India.

Authors:  Seema Alam; Bikrant Bihari Lal; Rajeev Khanna; Vikrant Sood; Dinesh Rawat
Journal:  Indian J Pediatr       Date:  2015-01-06       Impact factor: 1.967

8.  Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.

Authors:  Vered Molho-Pessach; Jonathan J Rios; Chao Xing; Kenneth D R Setchell; Jonathan C Cohen; Helen H Hobbs
Journal:  Hepatology       Date:  2012-02-08       Impact factor: 17.425

Review 9.  Gene therapy for inherited diseases of liver metabolism.

Authors:  Pasquale Piccolo; Nicola Brunetti-Pierri
Journal:  Hum Gene Ther       Date:  2015-04-01       Impact factor: 5.695

Review 10.  Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Authors:  Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger
Journal:  Orphanet J Rare Dis       Date:  2012-11-08       Impact factor: 4.123

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  4 in total

1.  Editorial: Advancements in Pediatric Hepatology - Approach Based Diagnosis and Management.

Authors:  Girish Gupte; Anshu Srivastava
Journal:  Indian J Pediatr       Date:  2016-10-04       Impact factor: 1.967

Review 2.  Adeno-Associated Virus Gene Therapy for Liver Disease.

Authors:  Lisa M Kattenhorn; Christopher H Tipper; Lorelei Stoica; Deborah S Geraghty; Teresa L Wright; K Reed Clark; Samuel C Wadsworth
Journal:  Hum Gene Ther       Date:  2016-12       Impact factor: 5.695

3.  Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature.

Authors:  Jin-Lian Jiang; Jiang-Fu Qian; De-Hui Xiao; Xia Liu; Fang Zhu; Jie Wang; Zhou-Xiong Xing; De-Lin Xu; Yuan Xue; Yi-Huai He
Journal:  World J Clin Cases       Date:  2022-10-06       Impact factor: 1.534

Review 4.  Nutrition in Chronic Liver Disease: Consensus Statement of the Indian National Association for Study of the Liver.

Authors:  Pankaj Puri; Radha K Dhiman; Sunil Taneja; Puneeta Tandon; Manuela Merli; Anil C Anand; Anil Arora; Subrat K Acharya; Jaya Benjamin; Yogesh K Chawla; Sunil Dadhich; Ajay Duseja; C E Eapan; Amit Goel; Naveen Kalra; Dharmesh Kapoor; Ashish Kumar; Kaushal Madan; Aabha Nagral; Gaurav Pandey; Padaki N Rao; Sanjiv Saigal; Neeraj Saraf; Vivek A Saraswat; Anoop Saraya; Shiv K Sarin; Praveen Sharma; Akash Shukla; Sandeep S Sidhu; Namrata Singh; Shivaram P Singh; Anshu Srivastava; Manav Wadhawan
Journal:  J Clin Exp Hepatol       Date:  2020-10-01
  4 in total

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